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Karaman A.,Istanbul Zeynep Kamil Women and Children Training and Research Hospital | Aydin H.,Istanbul Zeynep Kamil Women and Children Training and Research Hospital | Geckinli B.,Istanbul Zeynep Kamil Women and Children Training and Research Hospital | Goksu K.,Istanbul Zeynep Kamil Women and Children Training and Research Hospital
Genetic Counseling | Year: 2015

Summary: The deletion 22q 13 syndrome: A new case: The deletion 22ql3.3 syndrome (Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autisticlike with decreased perception of pain and habitual chewing or mouthing. The loss of 22ql3.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The present case was referred at the age of 8 months because of delayed psychomotor development, hypotonia and autistic features. Clinical examination showed a small forehead, long eyelashes, epicanthal folds and lowset ears, large and broad hands and feet with short terminal phalanges. He had no eye contact and could not sit without support.


Karaman A.,Istanbul Zeynep Kamil Women and Children Training and Research Hospital | Aydin H.,Istanbul Zeynep Kamil Women and Children Training and Research Hospital | Geckinli B.,Istanbul Zeynep Kamil Women and Children Training and Research Hospital | Cetinkaya A.,Istanbul Zeynep Kamil Women and Children Training and Research Hospital | Karaman S.,Istanbul Dr Lutfi Kirdar Kartal Training And Research Hospital
Mutation Research - Genetic Toxicology and Environmental Mutagenesis | Year: 2015

We assessed DNA damage in patients with metabolic syndrome (MetS) by performing comet and micronucleus (MN) assays on peripheral blood lymphocyte cultures from study participants. 52 MetS patients and 35 age-matched healthy controls were evaluated for abdominal obesity, body-mass index (BMI), blood pressure, serum triglycerides, HbA1c, HDL-C, and fasting blood glucose levels. In addition, malondialdehyde (MDA) levels and activities of superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) were determined. Serum levels of triglycerides, HbA1c, fasting blood glucose and waist circumference, systolic blood pressure, diastolic blood pressure, and BMI of the subjects in the MetS group were significantly higher than those of the control group (for each, p<. 0.001). However, the mean level of HDL-C in the MetS group was lower than in the control group (. p<. 0.001). In the study, the length of comet tails was significantly higher in the MetS patients (10.23. ±. 1.98, range 5.72-15.08) than in the controls (3.12. ±. 1.73, range 0.6-7.1) (. p<. 0.001). MN frequency was also significantly increased in MetS patients (3.68. ±. 1.27 per 1000 cells) compared to that of the control group (1.81. ±. 0.84 per 1000 cells) (. p<. 0.001). Micronucleated cell frequency and comet-tail length in subjects showed positive correlations with waist circumference, BMI, and plasma triglyceride levels (. p<. 0.01) and negative correlations with HDL-C levels (. p<. 0.01). Among the oxidative stress factors, MDA levels were significantly higher in MetS patients than in the controls. However, SOD and GSH-Px enzyme activities were significantly lower in the MetS group than in the controls. These findings suggest that patients with MetS have increased DNA damage and oxidative stress. © 2015 Elsevier B.V.


PubMed | Istanbul Dr Lutfi Krdar Kartal Training And Research Hospital and Istanbul Zeynep Kamil Women and Children Training and Research Hospital
Type: | Journal: Mutation research. Genetic toxicology and environmental mutagenesis | Year: 2015

We assessed DNA damage in patients with metabolic syndrome (MetS) by performing comet and micronucleus (MN) assays on peripheral blood lymphocyte cultures from study participants. 52 MetS patients and 35 age-matched healthy controls were evaluated for abdominal obesity, body-mass index (BMI), blood pressure, serum triglycerides, HbA1c, HDL-C, and fasting blood glucose levels. In addition, malondialdehyde (MDA) levels and activities of superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) were determined. Serum levels of triglycerides, HbA1c, fasting blood glucose and waist circumference, systolic blood pressure, diastolic blood pressure, and BMI of the subjects in the MetS group were significantly higher than those of the control group (for each, p<0.001). However, the mean level of HDL-C in the MetS group was lower than in the control group (p<0.001). In the study, the length of comet tails was significantly higher in the MetS patients (10.231.98, range 5.72-15.08) than in the controls (3.121.73, range 0.6-7.1) (p<0.001). MN frequency was also significantly increased in MetS patients (3.681.27 per 1000 cells) compared to that of the control group (1.810.84 per 1000 cells) (p<0.001). Micronucleated cell frequency and comet-tail length in subjects showed positive correlations with waist circumference, BMI, and plasma triglyceride levels (p<0.01) and negative correlations with HDL-C levels (p<0.01). Among the oxidative stress factors, MDA levels were significantly higher in MetS patients than in the controls. However, SOD and GSH-Px enzyme activities were significantly lower in the MetS group than in the controls. These findings suggest that patients with MetS have increased DNA damage and oxidative stress.


PubMed | Namk Kemal University, TUBITAK - Marmara Research Center, Dr Lutfi Krdar Kartal Training And Research Hospital, Fatih Sultan Mehmet Training and Research Hospital and 3 more.
Type: Letter | Journal: European journal of medical genetics | Year: 2016

Al-Awadi-Raas-Rothschild syndrome (AARRS) is a rare autosomal recessive disorder which consists of severe malformations of the upper and lower limbs, abnormal genitalia and underdeveloped pelvis. Here, we present a fetus with severe limbs defects, including bilateral humeroradial synostosis, bilateral oligodactyly in hands, underdeveloped pelvis, short femora and tibiae, absence of fibulae, severely small feet, and absence of uterus. An autosomal recessively inherited novel mutation in WNT7A found in the fetus, c.304C>T, affects an evolutionarily well-conserved amino acid, causing the p.(R102W) missense change at protein level. The findings presented in this fetus are compatible with diagnosis of AARRS, expanding the mutational spectrum of limb malformations arising from defects in WNT7A.

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